Diagnosis of 21-hydroxylase deficiency by urinary metabolite ratios using gas chromatography-mass spectrometry analysis: Reference values for neonates and infants
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- 作者：Clemens Kamrath ; Clemens.kamrath@paediat.med.uni-giessen.de" class="auth_mail" title="E-mail the corresponding author ; Michaela F. Hartmann ; Claudia Boettcher ; Klaus-Peter Zimmer ; Stefan A. Wudy
- 关键词：21-Hydroxylase deficiency ; Congenital adrenal hyperplasia ; Pregnanetriolone
- 刊名：Journal of Steroid Biochemistry and Molecular Biology
- 出版年：2016
- 出版时间：February 2016
- 年：2016
- 卷：156
- 期：Complete
- 页码：10-16
- 全文大小：1078 K
文摘
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One major issue ofnewborn screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21OHD) is the high false-positive rate, especially in preterm neonates.
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Urinary steroid metabolite analysis using gas chromatography–mass spectrometry (GC–MS) is suitable as a confirmatory diagnostic tool.
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We have developed reference values for diagnostic urinary steroid metabolite ratios in a large cohort of neonates and infants with 21OHD.
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The best diagnostic ratio for 21OHD was pregnanetriolone to 6α-hydroxy-tetrahydrocortisone.